面部皮脂腺痣伴多肿瘤及Muir-Torre综合征的临床病理学观察

Clinical and Pathological Observation of Facial Naevus Sebaceus with Multiple Tumors and Muir-Torre Syndrome

目的:探讨1例皮脂腺痣患者,同时继发乳头状汗管囊腺瘤、皮脂腺腺瘤、皮脂瘤三种肿瘤并伴有Muir-Torre综合征的临床病理特征、免疫表型及预后。方法:对患者的临床资料、病理特点及免疫组化标记进行研究并复习相关文献。结果:患者,女性,56岁。左面部皮表中央见隆起性肿物,肿物表面局部较粗糙,切面灰黄色,颗粒状。组织学表现为两种结构,一种呈乳头状结构,乳头表面被覆双层立方和柱状上皮,乳头间质可见大量浆细胞;一种呈分叶状结构,由周围基底细胞样细胞和中心的多泡状皮脂腺细胞组成,基底样细胞和多泡状细胞分布比例不同,局部区基底样细胞<50%,局部区基底样细胞>50%;免疫组化示乳头状结构CK7、CK5/6均(+);分叶状结构CK5/6、EMA、P63、AR均(+),BerEP4(-);错配修复(Mismatch repair,MMR)蛋白显示,MLH1和PMS2的核阳性表达,而MSH2和MSH6表达缺失,Ki67阳性指数约3%。结论:患者在皮脂腺痣的基础上同时发生三种肿瘤,既往有乳腺癌病史并错配修复蛋白缺失,提示伴发Muire-Torre综合征,病理对肿瘤的正确认识有助于临床进行Muire-Torre综合征调查。皮脂腺痣的多种肿瘤潜能,此类病例需要在成年后预防性切除或至少密切的临床监测,以防止新的肿瘤发生。

Objective Naevus sebaceus may develop into multiple epidermal and adnexal tumors.It is very rare to have more than three tumors at the same time on the basis of naevus sebaceus lesions, and it is even rare to be associated with Muir-Torre syndrome.The clinicopathological features,immunophenotype and prognosis of a patient with sebaceous nevus complicated with syringocystadenoma papilliferum, sebaceous adenoma and sebaceoma with Muir-Torre syndrome were studied. Methods The clinical data,pathological features and immunohistochemical markers of the patients were studied and the related literatures were reviewed. Results The patient was female, 56 years old. The tumor was seen in the left face, the surface of the tumor was rough, the section was grayish yellow and granular.Histology shows two kinds of structures, one is papillary structure,the surface of the papillary structure is covered with double cuboidal and columnar epithelium, and a large number of plasma cells can be seen in the papillary interstitium,the other is a lobulated structure, which is composed of surrounding basal-like cells and central polyvesicular sebaceous gland cells.The distribution proportion of basal-like cells and multi-vesicular cells is different,some region basal-like cells<50%,some region basal-like cells>50%.Immunohistochemistry showed that papillary structure CK7 and CK5/6 were all(+),lobulated structure CK5/6, EMA, p63, AR were all(+), BerEP4(-). The mismatch repair results showed retained nuclear expressions of MLH1 and PMS2 while MSH2 and MSH6 proteins were absent,Ki67 positive index was about 3%. Conclusion This patient developed three kinds of tumors simultaneously on the basis of naevus sebaceus.The previous history of breast cancer and mismatch repair absent suggested that it was associated with Muire-Torre syndrome.The correct understanding of the tumor by pathology is helpful to the clinical investigation of Muire-Torre syndrome.This article emphasizes the multiple tumor potential of s naevus sebaceus.All cases of naevus sebaceus require prophylactic resection or at least close clinical monitoring to prevent new tumors.